Cáncer colorrectal hereditario

El Panel de Cáncer Colorrectal Hereditario de Igenomix está indicado como prueba de cribado y diagnóstico en aquellos casos en los que exista:
GENE |
OMIM DISEASES |
INHERITANCE* |
% GENE COVERAGE (20X) |
HGMD** |
AKT1 |
Cowden Syndrome 6 |
AD |
100 |
6 of 6 |
APC |
Familial Adenomatous Polyposis 1, Desmoid Disease, Gardner Syndrome |
AD |
98.92 |
1846 of 1882 |
AXIN2 |
AXIN2-Related Attenuated Familial Adenomatous Polyposis, Oligodontia-Colorectal Cancer Syndrome |
AD |
99.86 |
1608 of 1632 |
ATM |
Ataxia-Telangiectasia, Breast Cancer, Mantle Cell Lymphoma |
AD.AR |
99.93 |
32 of 33 |
BLM |
Bloom Syndrome |
AR |
97.19 |
133 of 141 |
BMPR1A |
Familial Colorectal Cancer Type X, Juvenile Polyposis Syndrome Of Infancy, Polyposis Syndrome Juvenile Intestinal, Polyposis Syndrome Hereditary Mixed |
AD |
100 |
124 of 127 |
BUB1B |
Mosaic Variegated Aneuploidy Syndrome |
AD, AR |
99.84 |
30 of 31 |
CDH1 |
Blepharo-Cheilo-Odontic Syndrome, Breast Cancer, Cleft Lip/Palate, Gastric Cancer, Prostate Cancer |
AD |
100 |
361 of 363 |
CHEK2 |
Li-Fraumeni Syndrome, Breast Cancer Susceptibility To, Prostate Cancer Susceptibility To, Colorectal Cancer Susceptibility To |
AD |
99.47 |
307 of 310 |
ENG |
Familial Cerebral Saccular Aneurysm, Generalized Juvenile Polyposis/Juvenile Polyposis Coli, Hereditary Haemorrhagic Telangiectasia |
AD |
100 |
467 of 471 |
EPCAM |
Colorectal Cancer, Hereditary Nonpolyposis, Type 8, Lynch Syndrome |
AR |
99.94 |
52 of 70 |
FLCN |
Birt–Hogg–Dubé Syndrome, Colorectal Cancer, Renal Cell Carcinoma Nonpapillary |
AD |
100 |
200 of 205 |
GALNT12 |
Colorectal Cancer, Susceptibility To, 1 |
|
88.97 |
14 of 15 |
GREM1 |
Hereditary Mixed Polyposis Syndrome |
|
99.89 |
5 of 5 |
MLH1 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 2, Lynch Syndrome, Mismatch Repair Cancer Syndrome, Muir–Torre Syndrome |
AD, AR |
99.94 |
1079 of 1118 |
MLH3 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 7, Endometrial Carcinoma |
AD |
99.98 |
32 of 32 |
MSH2 |
Lynch Syndrome, Mismatch Repair Cancer Syndrome, Muir–Torre Syndrome |
AD, AR |
99.99 |
1032 of 1057 |
MSH3 |
Familial Adenomatous Polyposis 4 |
AD, AR |
99.42 |
23 of 24 |
MSH6 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 5, Lynch Syndrome, Mismatch Repair Cancer Syndrome, Muir-Torre Syndrome |
AD, AR |
99.28 |
613 of 641 |
MUTYH |
Familial Adenomatous Polyposis, 2 |
AR |
100 |
183 of 183 |
NTHL1 |
Familial Adenomatous Polyposis 3 |
AR |
100 |
13 of 13 |
PIK3CA |
Cowden Syndrome 5 |
AD |
99.58 |
54 of 58 |
PMS2 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 4, Lynch Syndrome, Mismatch Repair Cancer Syndrome |
AD, AR |
97.17 |
264 of 285 |
POLD1 |
Colorectal Cancer, Susceptibility To, 10, Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome, Polymerase Proofreading-Related Adenomatous Polyposis |
AD |
100 |
40 of 41 |
POLE |
Colorectal Cancer, Susceptibility To, 12, FILS Syndrome, IMAGE-I Syndrome, Polymerase Proofreading-Related Adenomatous Polyposis |
AD, AR |
100 |
100 of 100 |
PTEN |
Bannayan-Riley-Ruvalcaba Syndrome, Cowden Syndrome, Hereditary Breast And Ovarian Cancer Syndrome, Juvenile Polyposis Of Infancy, Lhermitte-Duclos Disease, Meningioma, Familial, Susceptibility To, Proteus Syndrome, Proteus-Like Syndrome, Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
AD |
99.97 |
609 of 629 |
RNF43 |
Sessile Serrated Polyposis Cancer Syndrome |
AD |
99.98 |
13 of 13 |
RPS20 |
Familial Colorectal Cancer |
|
99.97 |
1 of 1 |
SMAD4 |
Juvenile Polyposis/Hereditary Haemorrhagic Telangiectasia Syndrome, Polyposis, Juvenile Intestinal, Myhre Dysplasia, Polyposis, Juvenile Intestinal |
AD |
99.56 |
136 of 136 |
STK11 |
Peutz–Jeghers Syndrome |
AD |
81.99 |
456 of 470 |
TP53 |
Adrenocortical Carcinoma, Paediatric, Basal Cell Carcinoma, Susceptibility To, 7, Bone Marrow Failure Syndrome 5, Breast Cancer, Colorectal Cancer, Familial Pancreatic Carcinoma, Glioma Susceptibility 1, Hereditary Breast And Ovarian Cancer Syndrome, Li–Fraumeni Syndrome, Osteosarcoma, Papilloma Of Choroid Plexus |
AD, MU |
98.92 |
557 of 563 |
* Herencia: AD: Autosómico Dominante; AR: autosómico recesivo; X: ligado a X; XLR: recesivo vinculado a X; Mi: mitocondrial; Mu: multifactorial; G: herencia gonosomal; D: herencia digénica
** HGMD: número de mutaciones clínicamente relevantes según HGMD
Lorans M, Dow E, Macrae FA, Winship IM, Buchanan DD. Update on Hereditary Colorectal Cancer: Improving the Clinical Utility of Multigene Panel Testing. Clin Colorectal Cancer. 2018 Jun;17(2):e293-e305. doi: 10.1016/j.clcc.2018.01.001.
Guillén-Ponce C, Lastra E, Lorenzo-Lorenzo I, Martín Gómez T, Morales Chamorro R, Sánchez-Heras AB, Serrano R, Soriano Rodríguez MC, Soto JL, Robles L. SEOM clinical guideline on hereditary colorectal cancer (2019). Clin Transl Oncol. 2020 Feb;22(2):201-212. doi: 10.1007/s12094-019-02272-y.
National Comprehensive Cancer Network. (2021). Retrieved from https://www.nccn.org/professionals/physician_gls/default.aspx#detection
American Cancer Society https://www.cancer.org/cancer/colon-rectal-cancer.html
Brosens, L. A., Offerhaus, G. J., & Giardiello, F. M. (2015). Hereditary Colorectal Cancer: Genetics and Screening. The Surgical clinics of North America, 95(5), 1067–1080. https://doi.org/10.1016/j.suc.2015.05.004
Stoffel, E. M., Mangu, P. B., Gruber, S. B., Hamilton, S. R., Kalady, M. F., Lau, M. W., Lu, K. H., Roach, N., Limburg, P. J., American Society of Clinical Oncology, & European Society of Clinical Oncology (2015). Hereditary colorectal cancer syndromes: American Society of Clinical Oncology Clinical Practice Guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology Clinical Practice Guidelines. Journal of clinical oncology: official journal of the American Society of Clinical Oncology, 33(2), 209–217. https://doi.org/10.1200/JCO.2014.58.1322
Giardiello, F. M., Allen, J. I., Axilbund, J. E., Boland, C. R., Burke, C. A., Burt, R. W., Church, J. M., Dominitz, J. A., Johnson, D. A., Kaltenbach, T., Levin, T. R., Lieberman, D. A., Robertson, D. J., Syngal, S., Rex, D. K., & US Multi-Society Task Force on Colorectal Cancer (2014). Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-Society Task Force on colorectal cancer. Gastroenterology, 147(2), 502–526. https://doi.org/10.1053/j.gastro.2014.04.001